BOR2
MCID: BRN086
MIFTS: 22

Branchiootorenal Syndrome 2 (BOR2)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Name: Branchiootorenal Syndrome 2 57 74 29 13 6 72
Bor2 57 74
Branchio-Oto-Renal Syndrome Type 2 74
Branchiootorenal Syndrome, Type 2 40
Branchio-Oto-Renal Dysplasia 2 74
Branchiootorenal Dysplasia 2 74
Bor Syndrome 2 74

Characteristics:

HPO:

32
branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610896
MeSH 44 D019280
MedGen 42 C1970479
UMLS 72 C1970479

Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : 74 Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

MalaCards based summary : Branchiootorenal Syndrome 2, is also known as bor2. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency

More information from OMIM: 610896

Related Diseases for Branchiootorenal Syndrome 2

Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 renal insufficiency 32 HP:0000083
3 preauricular skin tag 32 HP:0000384
4 renal dysplasia 32 HP:0000110
5 hemifacial hypoplasia 32 HP:0011332

Clinical features from OMIM:

610896

Drugs & Therapeutics for Branchiootorenal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 2

Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

# Genetic test Affiliating Genes
1 Branchiootorenal Syndrome 2 29 SIX5

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

41
Skin

Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

# Title Authors PMID Year
1
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 8 71
21280147 2011
2
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 8 71
17357085 2007
3
A map of the interactome network of the metazoan C. elegans. 8
14704431 2004
4
Branchiootorenal Spectrum Disorder 71
20301554 1999
5
Linking hydrogen-mediated boron toxicity tolerance with improvement of root elongation, water status and reactive oxygen species balance: a case study for rice. 38
27616208 2016
6
Roles of BOR2, a boron exporter, in cross linking of rhamnogalacturonan II and root elongation under boron limitation in Arabidopsis. 38
24114060 2013
7
Combination of high-dose melphalan and bortezomib as conditioning regimen for autologous peripheral blood stem cell transplantation in multiple myeloma. 38
23877150 2013
8
[Cloning a gene related to resistance to TuMV in cabbage]. 38
12143316 2002
9
Allelism of pleiotropic drug resistance in Saccharomyces cerevisiae. 38
6762918 1982

Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SIX5 NM_175875.5(SIX5): c.886G> A (p.Ala296Thr) single nucleotide variant Pathogenic rs80356462 19:46270331-46270331 19:45767073-45767073
2 SIX5 NM_175875.5(SIX5): c.1093G> A (p.Gly365Arg) single nucleotide variant Pathogenic rs80356463 19:46270124-46270124 19:45766866-45766866
3 SIX5 NM_175875.5(SIX5): c.1655C> T (p.Thr552Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80356464 19:46269324-46269324 19:45766066-45766066
4 SIX5 NM_175875.5(SIX5): c.472G> A (p.Ala158Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356461 19:46271631-46271631 19:45768373-45768373
5 SIX5 NM_175875.5(SIX5): c.1261G> A (p.Val421Ile) single nucleotide variant Uncertain significance rs1057519372 19:46269956-46269956 19:45766698-45766698
6 SIX5 NM_175875.5(SIX5): c.2077G> A (p.Val693Met) single nucleotide variant Benign rs2341097 19:46268902-46268902 19:45765644-45765644

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

74
# Symbol AA change Variation ID SNP ID
1 SIX5 p.Ala158Thr VAR_032941 rs80356461
2 SIX5 p.Ala296Thr VAR_032942 rs80356462
3 SIX5 p.Gly365Arg VAR_032943 rs80356463
4 SIX5 p.Thr552Met VAR_032944 rs80356464

Expression for Branchiootorenal Syndrome 2

Search GEO for disease gene expression data for Branchiootorenal Syndrome 2.

Pathways for Branchiootorenal Syndrome 2

GO Terms for Branchiootorenal Syndrome 2

Sources for Branchiootorenal Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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